Canonical Allele Identifier: CA2336431289

Gene: B9D2 TMEM91

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363908_41363916delinsCAGGTCCGA , CM000681.2:g.41363908_41363916delinsCAGGTCCGA	GRCh38
NC_000019.9:g.41869813_41869821delinsCAGGTCCGA , CM000681.1:g.41869813_41869821delinsCAGGTCCGA	GRCh37
NC_000019.8:g.46561653_46561661delinsCAGGTCCGA	NCBI36
NG_013091.1:g.5258_5266delinsTCGGACCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-5+42_-5+50delinsTCGGACCTG (B9D2) MANE Select	ENSP00000243578.2:n.-5+42_-5+50delinsTCGGACCTG
ENST00000675972.1:c.-157_-149delinsTCGGACCTG (B9D2)	ENSP00000501911.1:n.-157_-149delinsTCGGACCTG
ENST00000243578.7:c.-5+42_-5+50delinsTCGGACCTG (B9D2)	ENSP00000243578.2:n.-5+42_-5+50delinsTCGGACCTG
ENST00000539627.5:c.-30+12706_-30+12714delinsCAGGTCCGA (TMEM91)	ENSP00000441900.1:n.-30+12706_-30+12714delinsCAGGTCCGA
ENST00000594416.1:c.-5+42_-5+50delinsTCGGACCTG (B9D2)	ENSP00000469666.1:n.-5+42_-5+50delinsTCGGACCTG
ENST00000601597.1:n.135+42_135+50delinsTCGGACCTG (B9D2)
ENST00000604123.5:c.142+9593_142+9601delinsCAGGTCCGA (TMEM91)	ENSP00000474871.1:n.142+9593_142+9601delinsCAGGTCCGA
ENST00000604424.1:n.350+12706_350+12714delinsCAGGTCCGA
NM_030578.3:c.-5+42_-5+50delinsTCGGACCTG (B9D2)	NP_085055.2:n.-5+42_-5+50delinsTCGGACCTG
XM_006723405.1:c.-5+42_-5+50delinsTCGGACCTG (B9D2)	XP_006723468.1:n.-5+42_-5+50delinsTCGGACCTG
XM_011527350.1:c.-72+42_-72+50delinsTCGGACCTG (B9D2)	XP_011525652.1:n.-72+42_-72+50delinsTCGGACCTG
XM_011527349.2:c.-157_-149delinsTCGGACCTG (B9D2)	XP_011525651.1:n.-157_-149delinsTCGGACCTG
XM_011527350.2:c.-72+42_-72+50delinsTCGGACCTG (B9D2)	XP_011525652.1:n.-72+42_-72+50delinsTCGGACCTG
NM_030578.4:c.-5+42_-5+50delinsTCGGACCTG (B9D2) MANE Select	NP_085055.2:n.-5+42_-5+50delinsTCGGACCTG